What is motor neurone disease (MND)

A closer look at MND

Motor neurone disease is also known as amyotrophic lateral sclerosis (ALS) or Lou Gehrig’s Disease. It is an umbrella term for a group of diseases affecting motor neurons.  

There are two main types of motor neurons: 

• Upper motor neurons (UMN): nerves in the brain that connect to the lower motor neurons in the spinal cord. 
• Lower motor neurons (LMN): nerves in the spinal cord connecting to the upper motor neurons to send signals to activate muscles. 

For those living with MND, the motor neurons in their body become damaged and die. With little, or no, motor neurons to activate them, the muscles begin to weaken and waste. Over time, suffers lose the ability to walk, talk, swallow and, breathe. 

As MND weakens the muscles, individuals lose the ability to move, eventually becoming immobile. Despite this, most keep their mental clarity even as their physical abilities decline. 

What makes MND hard to treat?

While a lot of progress has been made in the last 10 years, there is still no treatment for MND.  

MND is a group of diseases with multiple causes, rather than a single cause. This is why it is so difficult to treat, and why funding research to develop effective treatments and diagnostic tests is so vital. 

1. There are different forms of MND

Mutations in different genes are linked to some forms of MND.  

Around 10% of people diagnosed have inherited a genetic mutation from a family member with MND. This inherited form of MND is known as “familial MND”. The most common gene mutations associated with these inherited forms are SOD1, TDP43, FUS, C9ORF72 and NEK1. It’s important to note that not everyone with a known gene mutation will have MND.  

Of people diagnosed with MND, 90% are the only known member in the family to receive a diagnosis. This is known as “sporadic MND”. While there may be a genetic factor, environmental factors may also play a part in the development of MND.  

2. Environmental risk factors

A combination of genetic mutations and environmental influences play a role in someone developing MND. Environmental risk factors that may be associated with MND include:  

• Lifestyle 
• Mechanical and/or electrical trauma 
• High levels of exercise 
• Environmental exposure to chemicals, pesticides, or heavy metals  

However, there is no clear link between someone’s lifestyle and environment and the development of MND, and hence not yet possible to suggest ways to reduce the risk of developing MND.   

Care and Quality of Life

There is no treatment for MND. But there are ways to manage symptoms and improve the quality of life of someone living with MND.   

Medications like Riluzole and Toferson (only for those with a particular genetic mutation) may slow the progression of disease slightly in some cases. Other drugs may be available to manage symptoms such as muscle stiffness, pain or depression.  

Multidisciplinary care has been shown to improve the quality of life of a person living with MND, and potentially extending life. A multidisciplinary care team includes a team of health professionals, such as: 

• GPs 
• neurologists 
• nurses
• physiotherapists 
• speech therapists 
• respiratory physiotherapists 
• dietitians 
• palliative health care professionals 
• social workers and professional carers and more 

These professionals work together to deliver care and support to address the complex health needs of a person living with MND.    

MND is a devastating condition. Supportive care and early intervention can improve patients’ quality of life and help manage the challenges they face. 

The impact of FightMND

FightMND is one of the world’s largest funders of MND research and care projects to support those living with MND . Our investments have increased the number potential drugs to treat MND, and improved access for Australians living with MND to participate in clinical trials, providing hope for those who are currently living with the disease.